Cortical dysplasia-focal epilepsy syndrome
Engelsk navn: CNTNAP2-related developmental and epileptic encephalopathy
Engelske synonym: CDFE syndrome,CDFES,CNTNAP2-related DEE,Cortical dysplasia-focal epilepsy syndrome
Definisjon
A rare, genetic, syndromic neurodevelopmental disorder characterized by moderate to mostly severe intellectual disability, speech impairment with normal or mildly delayed motor development and early-onset seizures often accompanied by developmental regression. Autistic behavior and stereotypic movements are common.
Fra Orphanet
ORPHA: 163681
Klassifiseringsnivå: Disorder
ICD-10: Q04.8
Mer informasjon
Deler av informasjonen over er hentet fra ORPHAdata med lisens: Commons Attribution 4.0 International (CC BY 4.0)
